Discussions By Condition: I cannot get a diagnosis.

Case : -------2yrs,3Mnths old girl child admitted on 4-oct-07 with fever&severe mouth ulcers & involuntary muscular twitching near the mouth.Brain MRI Report:------------------There is evidence of bilateral almost wedge shape small lesions involve the parietal lobes particularly the cortex, the involvement of the right parietal lobe is more pronounced, that changes appear hyperintense on T2W, PD and FLAIR as well and slightly hypointense on T1W images, there is no mass effect.

The affected areas don't enhance following the I.V Gd. DTPA. Otherwise, the white matter appears unremarkable and the myelinating progress is appropriate for age.

The ventricles, sulci and basal cisterns are of normal size.

The posterior fossa, major signal voids, sella and juxta-sellar region appear unremarkable.------End of MRI report------------CT scan is normal and other basic blood tests are normal. Lumbar puncture done and CSF tests normal.Herpes tests negative. Sickle cell tests negative.----------------Antibiotics started - augmentin, Zovirax (acyclovir) started, AED like phenytoin sodium, epanutin given for for day 1 and day 2 of admission.-------------------Initial diagnosis was Febrile seizure(as before and during admission high fever was present).2nd and 3rd day of admission when fever was not present)child had one or two mild twitching episodes near the mouth lasting max for 20 secs.Neurologist prescribed Depakene 50mg. Pediatrician did some more blood tests.APTT test is within range :36.5 SECS Range Prothrombin time test is within range :12.1 SECS Range Abnormal (?) results on coagulation tests as follows :-----------1. High Anti Thrombin III Assay values (Abnormal ?!):146.2H - Range 2. Lupus AnticoagulantsLA1=48.4secsLA2=32.0secsLA1/LA2 Ratio = 1.52.

3. Protein C Assay (Abnormal !!?) 181.5 - Range ---------------------------------- 4. Protein S Assay is Normal91.0 - Range -------------Doctor has prescribed tests for Factor V leiden,Prothrombin 20210 mutation and homocystein.Results are awaited...------------------------------Current clinical condition of child (Day 10 of admission)-------------------------------------------Since day 4 of admission, She is laughing, crying and playing with toys and also writing using pen and paper. All limbs are moving. Eyesight is fine and hearing is fine. Child is very active.Mouth ulcers subsided from day 5 of admission. Able to form mouth shapes for words. Not able to audibly talk (she was able to audibly utter words like "Mamma" on day 1 of admission)From day 5 of admission, able to eat soft food. unable to move tongue to guide food to the back of the mouth. Able to stretch tongue out.

Questions needing feedback !! (Will be greatly indebted for any feedback)----------------------------1. What are the chances that the child will have a blood disorder (homozygous or heterozygous Factor 5 deficiency etc.,)If the chances are quite high, what is the prognosis for the patient and is there cause for major concern.2. Child is not able to utter words audibly though she is able to make few word shapes. She is laughing and crying normally. Has she acquired a speech anomaly and if so, what is the prognosis ? Is this due to her severe mouth ulcers developed or due to the infarction?. Hopefully this is fully reversible ?THANKS IN ADVANCE. WE ARE VERY ANXIOUS...===============================================Additional information which can also be provided for your guidance :==============================1. Detailed document containing the following contents : - Case description - Pertinent facts regarding the patient - Sequence of events leading to admission - Hospitalisation : Events , treatment and tests - Test results currently available (chronically arranged) - Test results awaited. - Medication grid including dosage2. Videos taken when the facial seizure including the twitching in the edge of the mouth and also videos taken showing activity of child like playing with toys, laughing.Other Pertinent facts about the patient :--------------------------------------Weight : 11.3KGVery active, talkative child.No family history of seizures of epilepsy or blood disorders.Parents of child are related to each other (first cousins) – (The mother of the patient’s mother is the younger sister of the father of the patients father !) ----------------------------------------

2 Replies:

MR.SALEEMBHAI I READ YOUR HISTORY AND MY DIAGNOSIS IS FEBRILE SEZURES. WHAT EVER OTHER DATA GIVEN THERE IS SUGGESTING OF LEIDEN'S MUTATION? - IT IS QUESTIONABLE BECAUSE AFTER SUBSIDING FEVER THERE MAY BE TWICHING FOR MORE DAYS-I HAVE SEEN SO MANY TIME. WHENEVER YOU GET FEVER THAT TIME SAME KIND OF SEIZURE CAN BE HAPPEN. DR.PARAG JOSHI paragjoshi1999@yahoo.com

Dear Dr Parag, thanks so much for your time and feedback. It is indeed a great relief for us. We are awaiting the Factor V lieden tests and the promthrombin 20210 mutation and homocystein tests. If she is Factor 5 (homozygous or heterozygous) positive, what is the prognosis ? I have made a detailed document detailing her case including hospitalisation events, test resuts and MRI reports. I have also made videos of her seizure and her progressive improvements. I also have the MRI and CT scan images (in jpg form). If you are interested, i sure can forward you these to your email id. thanks again for your support and re-assurance, with best regards..